THE DISEASE – familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterised by very high plasma concentrations of LDLc and an increased risk of premature heart disease (HD).
FH is a worldwide public health problem due to the high incidence of premature cardiovascular disease in these patients (<55 years in men and <65 years in women), and reduced life expectancy observed in many families with FH.
Its prevalence is estimated at 1/250 to 1/500 in the general population, this means around 10 to 20 million people are affected worldwide by FH. More than 80% of these patients remain underdiagnosed.1
An individual affected by FH has a 50% probability that their children will develop FH. Indeed, even individuals as young as 17 years of age, and apparently symptom free, can be affected by coronary atherosclerosis.
Moreover, approximately 85% of men and 50% of women that do not receive treatment suffer a coronary event before they reach 65 years of age.
Long-term studies have demonstrated that the principal cause of death in patients with FH is cardiovascular disease, and that each year some 200,000 people die due to heart attacks as a consequence of FH.
To prevent premature cardiovascular disease and the early deaths associated with FH, it is very important to rapidly identify individuals with FH, discover FH afflicted family members, and begin treatment as soon as possible.
Benefits of FH Genetic Testing
Provides advantages over clinical diagnosis
- High specificity, sensibility, and accuracy for a disease widely under-diagnosed2
- Familial diagnosis of the disease in patients' relatives – cascade screening3
- Early diagnosis at any age (children), even before clinical symptoms have been developed4
- Personalized treatment after prognosis of the severity of the FH derived atherosclerosis5
- Better treatment compliance6
Leading Experts on FH
Grifols accounts for more 15 years of experience with FH
- An effective combination of genetic and clinical interpretation
- Access to our continuously updated FH mutation database ( >1,600 variants)
- Proven experience with up to 12 years of FH genetic diagnosis and more than 17,000 patients screened through our subsidiary Progenika
- Tool of first choice for clinical trials by big pharmaceutical companies8
Rely on thorough results with a high-quality service
- Simultaneous detection of FH mutations: 7 FH related genes analyzed: LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1 and LIPA, plus FH Polygenic SNPs and statins intolerance
- High specificity and sensitivity with latest technologies – next generation sequencing and Sanger technologies
- Supported by a large number of peer-reviewed articles
- Testing performed by qualified personnel in an accredited laboratory
- Analysis for blood, saliva or DNA samples
- Complete report detailing results and reference values
This information is intended for physicians and healthcare professionals only.
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- International Panel on Management of FH. Guidelines for the diagnosis and management of HeFH. Atherosclerosis 173 (2004) 55-68.
- World Health Organization. Human Genetic Program. Familial Hypercholesterolemia, report of a WHO consultation. WHO/HGN/FH/CONS//98.7 Paris; October 1997.
- Van Aalst-Cohen et al. Diagnosing Familial Hypercholestrolemia: the relevance of genetic testing. European Heart Journal 2006; 27:2240-2246.
- Leren et al. Cascade genetic screening for Familial Hypercholesterolemia. Clin Genet 2004; 66:483-487.
- Junyent et al. Impact of low density lipoprotein receptor mutational class on carotid atherosclerosis in patients with Familial Hypercholesterolemia. Atherosclerosis 2010; 208:437-441.
- Umans-Eckenhausen et al. Long Term Compliance With Lipid-Lowering medication After Genetic Screening for Familial Hypercholesterolemia. Arch Intern Med 2003; 163:65-68.
- Wonderling et al. Cost-effetiveness analysis of the genetic screening program for Familial Hypercholesterolemia in the Netherlands. Semin Vasc Med 2004; 4:97-104.
- (Frederick J. Raal et al. Inhibition of PCSK9 with evolocumab in homozygous Familial Hypercholesterolemia (TESLA Part B): a randomized, double-blind, placebo controlled trial. Lancet: 2015; 385;341-50).